Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.11042676G= , CM000668.2:g.11042676G= | GRCh38 |
| NC_000006.11:g.11042909G= , CM000668.1:g.11042909G= | GRCh37 |
| NC_000006.10:g.11150895G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017770.4:c.3+1552C= MANE Select | NP_060240.3:n.3+1552C= |
| ENST00000354666.4:c.3+1552C= MANE Select | ENSP00000346693.3:n.3+1552C= |
| NM_017770.3:c.3+1552C= | NP_060240.3:n.3+1552C= |
| ENST00000354666.3:c.3+1552C= | ENSP00000346693.3:n.3+1552C= |